Benjamin Helm, PhD, MS, CGC
@bmhgcepi.bsky.social
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Genetic Counselor, Epidemiology, Cardiovascular Genetics
Criteria to Assess the Predictive and Clinical Utility of Novel Models, Biomarkers, and Tools for Risk of Cardiovascular Disease: A Scientific Statement From the American Heart Association | Circulation
www.ahajournals.org/doi/suppl/10...
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Criteria to Assess the Predictive and Clinical Utility of Novel Models, Biomarkers, and Tools for Risk of Cardiovascular Disease: A Scientific Statement From the American Heart Association | Circulati...
Risk prediction has been used in the primary prevention of cardiovascular disease for >3 decades. Contemporary cardiovascular risk assessment relies on multivariable models, which integrate establi...
https://www.ahajournals.org/doi/suppl/10.1161/CIR.0000000000001401#supplementary-materials
18 days ago
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Here is additional work from Mahati Pidaparti and Kristen Suhrie and our groups on outcomes in neonates with CHD and supporting the importance of genetic diagnosis for risk stratification:
www.nature.com/articles/s41...
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Predicting the future for neonates with symptomatic congenital heart disease - Journal of Perinatology
Journal of Perinatology - Predicting the future for neonates with symptomatic congenital heart disease
https://www.nature.com/articles/s41372-026-02653-6
about 1 month ago
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Sharing work from Onyedika Ilonze MD, MPH, FACC, FHFSA, FAHA and a multidisciplinary team at our center, highlighting interesting genetic cardiomyopathy cases:
www.sciencedirect.com/science/arti...
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Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and Lamin A/C Mutations
Nonischemic dilated cardiomyopathy (DCM) can result from pathogenic variants in genes affecting myocardial structure and function. FKTN and LMNA mutatâŠ
https://www.sciencedirect.com/science/article/pii/S2666084926001853
3 months ago
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Wanted to share work led by Allison Schartman and Kristyne Stone highlighting the limitations of prenatal genetic testing/screening and current professional guidelines for offering various prenatal genetic screening/diagnostic tests.
obgyn.onlinelibrary.wiley.com/doi/10.1002/...
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OBGYN
Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were ...
https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.70072
4 months ago
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Sharing work from our group, especially as we question paradigms of clinical screening for FH and elevated Lp(a):
www.sciencedirect.com/science/arti...
It is turning out that standard risk factors like LDL cholesterol and clinical/family history may not be adequate.
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Missed and Misdiagnosed: Precision Medicine Approaches to Screening for Familial Hypercholesterolemia and Lipoprotein(a)
https://www.sciencedirect.com/science/article/pii/S2772963X25008907
5 months ago
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Any thoughts or methods for deriving etiologic fraction (EF%), or PAR%, from a multivariable logistic regression model for a variable of interest? Came across this:
pubmed.ncbi.nlm.nih.gov/4050778/
But leveraging the community too...
#EpiSky
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Estimating the population attributable risk for multiple risk factors using case-control data - PubMed
A straightforward and unified approach is presented for the calculation of the population attributable risk per cent (etiologic fraction) in the general multivariate setting, with emphasis on using data from case-control studies. The summary attributable risk for multiple factors can be estimated, w âŠ
https://pubmed.ncbi.nlm.nih.gov/4050778/
5 months ago
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Familial Hypercholesterolemia in Newborns url:
jamanetwork.com/journals/jam...
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Familial Hypercholesterolemia in Newborns
This cross-sectional study investigates if familial hypercholesterolemia can be identified through newborn screening.
https://jamanetwork.com/journals/jamacardiology/fullarticle/2840229?utm_source=bluesky&utm_campaign=content-shareicons&utm_content=article_engagement&utm_medium=social&utm_term=111525
6 months ago
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Should Familial Hypercholesterolemia Be Included in Newborn Screening? url:
jamanetwork.com/journals/jam...
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https://jamanetwork.com/journals/jamacardiology/fullarticle/2840228?utm_source=bluesky&utm_campaign=content-shareicons&utm_content=article_engagement&utm_medium=social&utm_term=110725
6 months ago
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Today is FH Awareness Day,
#KnowFH
. Anyone working with or experiencing familial heart diseases and genetically high cholesterol disorders benefit from the work of the
@familyheartfdn.bsky.social
8 months ago
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Lipoprotein(a) Atherosclerotic Cardiovascular Disease Risk Score Development and Prediction in Primary Prevention From Real-World Data | Circulation: Genomic and Precision Medicine
www.ahajournals.org/doi/10.1161/...
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Lipoprotein(a) Atherosclerotic Cardiovascular Disease Risk Score Development and Prediction in Primary Prevention From Real-World Data | Circulation: Genomic and Precision Medicine
BACKGROUND: Lipoprotein(a) [Lp(a)] is a predictor of atherosclerotic cardiovascular disease (ASCVD); however, there are few algorithms incorporating Lp(a), especially from real-world settings. We deve...
https://www.ahajournals.org/doi/10.1161/CIRCGEN.124.004631?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed#supplementary-materials
8 months ago
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Experiences of people with elevated lipoprotein(a) and the impact on family and child screening - Journal of Clinical Lipidology
www.lipidjournal.com/article/S193...
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Experiences of people with elevated lipoprotein(a) and the impact on family and child screening
Lipoprotein(a) [Lp(a)] is a low-density lipoprotein (LDL) particle additionally bound to apolipoprotein(a) [apo(a)], and it is an independent causal risk factor for cardiovascular disease.1,2 Lp(a) co...
https://www.lipidjournal.com/article/S1933-2874%2825%2900351-4/fulltext
10 months ago
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Factors influencing retention of patientâfacing genetic counselors: Role of generational age and work environment - Frye - 2025 - Journal of Genetic Counseling
onlinelibrary.wiley.com/doi/10.1002/...
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https://onlinelibrary.wiley.com/doi/10.1002/jgc4.70076
10 months ago
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Sorry, what was the question again?
open.substack.com/pub/statsepi...
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Sorry, what was the question again?
And again. And again. And again...
https://open.substack.com/pub/statsepi/p/sorry-what-was-the-question-again?utm_campaign=post&utm_medium=web
10 months ago
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steven-senior.medium.com/it-wont-work...
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It wonât work but at least itâll be expensive: Why genomics could be an expensive distraction whenâŠ
The NHS 10 year plan puts a lot of stock in genomics for preventing people getting sick. For example, it envisages aânew genomicsâŠ
https://steven-senior.medium.com/it-wont-work-but-at-least-it-ll-be-expensive-why-genomics-could-be-an-expensive-distraction-when-00a40ee713d2
10 months ago
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pubmed.ncbi.nlm.nih.gov/26979548/
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The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis - PubMed
This is a revised and updated version of a Cochrane review from 2010, adding 11 studies to the seven previously identified.
https://pubmed.ncbi.nlm.nih.gov/26979548/
10 months ago
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Ongoing work on rGS in the ICU setting:
publications.aap.org/pediatrics/a...
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Standardized Criteria for Genomic Testing in the NICU
BACKGROUND. Genetic disorders are pervasive in neonatal intensive care unit (NICU) populations, and the superiority of genomic testing to rapidly identify genetic diagnoses is established, yet patient...
https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2024-069591/202237/Standardized-Criteria-for-Genomic-Testing-in-the
11 months ago
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Work from our recent IUGCP graduate: Evaluating firstâline genetic testing strategies for inpatients with congenital heart defects - Lindstrom - 2025 - Journal of Genetic Counseling -
onlinelibrary.wiley.com/doi/10.1002/...
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Evaluating firstâline genetic testing strategies for inpatients with congenital heart defects
Genetic testing strategies used to determine the etiology of congenital heart disease/defects (CHD/CHDs) vary between and within institutions, leading to potentially missed diagnostic opportunities. ....
https://onlinelibrary.wiley.com/doi/10.1002/jgc4.70073
11 months ago
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reposted by
Benjamin Helm, PhD, MS, CGC
Jehannine (J9) Austin
11 months ago
Thrilled to share the Journal of Genetic Counseling's Special issue on Research Methods! Including "how to" papers on: Stats! Grounded theory! Interpretive Phenomenological analysis! Content analysis! Mixed methods! Surveys! Chart review! etc!
onlinelibrary.wiley.com/doi/toc/10.1...
#AcademicSky
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Research Methods in Genetic Counseling: Journal of Genetic Counseling
Click on the title to browse this issue
https://onlinelibrary.wiley.com/doi/toc/10.1002/(ISSN)1573-3599.research-methods
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We hope to see our research methods paper be a resource to the GC community tackling their research using quantitative methods:
onlinelibrary.wiley.com/doi/10.1002/...
@j9austin.bsky.social
#GCchat
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Research methods in genetic counseling: Statistical approaches and resources
The continuing evolution of the genetic counseling profession necessitates an ongoing reflection on the perceived validity and role of our research in the larger systems we operate in. Despite our ne...
https://onlinelibrary.wiley.com/doi/10.1002/jgc4.70042
about 1 year ago
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pubmed.ncbi.nlm.nih.gov/40266171/
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Lipoprotein(a) Cardiovascular Risk Explained by LDL Cholesterol, Non-HDL Cholesterol, ApoB, or hsCRP Is Minimal - PubMed
Lipoprotein(a) Cardiovascular Risk Explained by LDL Cholesterol, Non-HDL Cholesterol, ApoB, or hsCRP Is Minimal
https://pubmed.ncbi.nlm.nih.gov/40266171/
about 1 year ago
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I kinda wish "Effect and Cause" by the White Stripes would become the unofficial song for directed acyclic graphs (DAGs) and causal inference, generally
@pwgtennant.bsky.social
@epiellie.bsky.social
@epidbydesign.bsky.social
about 1 year ago
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Here is our work stemming from my dissertation on dysmorphology-guided prediction of genetic disorders in CHD:
www.ahajournals.org/doi/10.1161/...
We also use DCA to support genetic testing for CHD populations agnostic to clinical presentation
@jamesrpriestmd.bsky.social
@jwbelmon.bsky.social
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Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease | Circulation: Genomic and Precision Medicine
BACKGROUND: Genetic disorders are prevalent in patients with congenital heart disease (CHD), but genetic evaluations are underutilized and nonstandardized. We sought to quantify a dysmorphology score ...
https://www.ahajournals.org/doi/10.1161/CIRCGEN.124.004895
about 1 year ago
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onlinelibrary.wiley.com/doi/abs/10.1...
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Addressing United States government censorship as related to genetic counseling research in the Journal of Genetic Counseling
Click on the article title to read more.
https://onlinelibrary.wiley.com/doi/abs/10.1002/jgc4.70029
about 1 year ago
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Navigating VUS in genetic dyslipidemias, led by Hannah Ison, Gabe Kringlen, and Paul Crawford:
pubmed.ncbi.nlm.nih.gov/39950242/
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Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients - PubMed
This review aims to summarize this literature and provide insight into variant interpretation, practical steps clinicians can take to further assess a VUS, and considerations when counseling patients ...
https://pubmed.ncbi.nlm.nih.gov/39950242/
over 1 year ago
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reposted by
Benjamin Helm, PhD, MS, CGC
Jehannine (J9) Austin
over 1 year ago
Huge gratitude to all the members of the editorial board, all our authors, reviewers, the podcast team... so many people contribute to our success... thank you all!
@jodieingles27.bsky.social
@tashawainstein.bsky.social
@bmhgcepi.bsky.social
@laurahercher.bsky.social
@naomi-cgc.bsky.social
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reposted by
Benjamin Helm, PhD, MS, CGC
Maarten van Smeden
over 1 year ago
Let us start 2025 in a positive mood: here are 10 methods things researchers can worry *less* about in 2025
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Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing:
onlinelibrary.wiley.com/doi/10.1002/...
#cardiosky
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Performance of DysmorphologyâBased Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing
Overview of study design and resultsâDysmorphic patients had a two-fold increased risk of having genetic disorders identified, consistent across extra cardiac anomalies (ECA) status. However, dysmorp...
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70040
over 1 year ago
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www.ahajournals.org/doi/10.1161/...
over 1 year ago
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jamanetwork.com/journals/jam...
over 1 year ago
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Compared larger to a smaller model (log reg), the LR test and delta AUC support use of the smaller model. But a reviewer now asking 4 NRI to "prove" the larger didn't improve NRI. I know Kerr's and Vickers's views of NRI (bad). How would u respond?
@gscollins.bsky.social
@richarddriley.bsky.social
over 1 year ago
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Prediction models need appropriate internal, internal-external, and external validation:
www.ncbi.nlm.nih.gov/pmc/articles...
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Prediction models need appropriate internal, internal-external, and external validation
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578404/
over 1 year ago
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Decision curve analysis supports universal genetic testing in infants w/ CHD:
www.mdpi.com/2073-4425/15...
. Thanks
@ddsjoberg.bsky.social
for DCA macros.
@jamesrpriestmd.bsky.social
@jwbelmon.bsky.social
about 2 years ago
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@ddsjoberg.bsky.social
wanted to say thank you for the great tutorial on DCA... especially the SAS macro. Dissertation spinoff projects have used it. Thanks!
over 2 years ago
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